Canonical Allele Identifier: CA376704859

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50667279T>C (hg19) ; chr10:g.49459233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459233T>C , CM000672.2:g.49459233T>C	GRCh38
NC_000010.10:g.50667279T>C , CM000672.1:g.50667279T>C	GRCh37
NC_000010.9:g.50337285T>C	NCBI36
NG_009442.1:g.84869A>G , LRG_465:g.84869A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4064A>G MANE Select	ENSP00000348089.5:p.Asp1355Gly
ENST00000679552.1:n.2273A>G
ENST00000679871.1:n.1210A>G
ENST00000679974.1:n.1113A>G
ENST00000681632.1:n.5467A>G
ENST00000681659.1:c.3905A>G	ENSP00000505631.1:p.Asp1302Gly
ENST00000355832.9:c.4064A>G	ENSP00000348089.5:p.Asp1355Gly
ENST00000623073.3:c.*2360A>G	ENSP00000485650.1:n.*2360A>G
ENST00000623115.3:c.2174A>G	ENSP00000485321.1:p.Asp725Gly
ENST00000624341.3:c.1896A>G
NM_000124.3:c.4064A>G	NP_000115.1:p.Asp1355Gly
XR_945953.1:n.243-12332T>C
NM_001346440.1:c.4064A>G	NP_001333369.1:p.Asp1355Gly
NM_000124.4:c.4064A>G MANE Select	NP_000115.1:p.Asp1355Gly
NM_001346440.2:c.4064A>G	NP_001333369.1:p.Asp1355Gly